Raúl Ayala-Ramírez

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

Raúl Ayala-Ramírez, Federico A. Graue-Wiechers, Robredo et al. · PubMed · 2006 · 119 citations

A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen

Jaume Crespí, José A. Buil, Francisca Bassaganyas et al. · American Journal of Ophthalmology · 2008 · 102 citations

Ocular Disease, Disease Mechanism, Ophthalmology +6

Homozygosity mapping identifies the Crumbs homologue 1 (<i>Crb1</i>) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

Juan Carlos Zenteno, Beatriz Buentello‐Volante, Raúl Ayala-Ramírez et al. · American Journal of Medical Genetics Part A · 2011 · 48 citations

Genetics, Genomic Mechanism, Molecular Biology +18

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Oscar F. Chacón‐Camacho, Mariella Granillo-Alvarez, Raúl Ayala-Ramírez et al. · Experimental Eye Research · 2013 · 42 citations

Genetic Disorder, Medicine, Genetics +10